Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease
dc.contributor.author | Espay, Alberto J. | |
dc.contributor.author | Spina, Salvatore | |
dc.contributor.author | Houghton, David J. | |
dc.contributor.author | Murrell, Jill R. | |
dc.contributor.author | de Courten-Myers, Gabrielle M. | |
dc.contributor.author | Ghetti, Bernardino | |
dc.contributor.author | Litvan, Irene | |
dc.contributor.department | Department of Pathology & Laboratory Medicine, IU School of Medicine | en_US |
dc.date.accessioned | 2016-03-23T17:18:18Z | |
dc.date.available | 2016-03-23T17:18:18Z | |
dc.date.issued | 2011 | |
dc.description.abstract | Objective To report the rare but distinct clinical and neuropathological phenotype of non-familial, rapidly progressive parkinsonism and dementia associated with frontotemporal lobar degeneration with motor neuron disease (FTLD-MND). Methods Subjects included two 70-year-old women presenting with rapidly progressive severe postural instability, axial-predominant parkinsonism, oculomotor dysfunction and frontal-predominant dementia with language impairment and pseudobulbar palsy. One had diffuse weakness without signs of lower motor neuron disease. Post-mortem evaluations included immunohistochemistry with antiphospho-TAR DNA-binding protein 43 (TDP-43) and genetic analysis of the TARDBP and PGRN genes. Results Subjects died within 14 months from symptom onset. TDP-43-positive neuronal intracytoplasmic inclusions were prominent in the primary motor cortex, granule cell layer of the hippocampus, and several cranial and spinal cord nuclei. TDP-43 globular glial inclusions (GGI) were identified in one case. There were no mutations in PGRN or TARDBP genes. Conclusions FTLD-MND due to TDP-43-proteinopathy should be considered in patients with rapidly progressive parkinsonism and dementia phenotype, especially when aphasia and/or weakness are also present. | en_US |
dc.eprint.version | Author's manuscript | en_US |
dc.identifier.citation | Espay, A. J., Spina, S., Houghton, D. J., Murrell, J. R., de Courten-Myers, G. M., Ghetti, B., & Litvan, I. (2011). Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease. Journal of Neurology, Neurosurgery, and Psychiatry, 82(7), 751–753. http://doi.org/10.1136/jnnp.2009.201608 | en_US |
dc.identifier.uri | https://hdl.handle.net/1805/8998 | |
dc.language.iso | en_US | en_US |
dc.publisher | BMJ Publishing Group Ltd. | en_US |
dc.relation.isversionof | 10.1136/jnnp.2009.201608 | en_US |
dc.relation.journal | Journal of Neurology, Neurosurgery & Psychiatry | en_US |
dc.rights | Publisher Policy | en_US |
dc.source | PMC | en_US |
dc.subject | Aged | en_US |
dc.subject | Aphasia, Broca | en_US |
dc.subject | DNA-Binding Proteins | en_US |
dc.subject | Disease Progression | en_US |
dc.subject | Female | en_US |
dc.subject | Frontotemporal Lobar Degeneration | en_US |
dc.subject | Humans | en_US |
dc.subject | Immunohistochemistry | en_US |
dc.subject | Motor Neuron Disease | en_US |
dc.subject | Ophthalmoplegia | en_US |
dc.subject | Parkinson Disease | en_US |
dc.subject | Pseudobulbar Palsy | en_US |
dc.subject | TDP-43 Proteinopathies | en_US |
dc.title | Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease | en_US |
dc.type | Article | en_US |